Previous HGNC Symbols for ATP7B Gene

Previous GeneCards Identifiers for ATP7B Gene

Summaries for ATP7B Gene

Entrez Gene Summary for ATP7B Gene

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]

mRNA Expression by UniProt/SwissProt for ATP7B Gene

Tissue specificity:Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues

Publications for ATP7B Gene

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.(PMID: 11690702)Caca K. … Berr F.(J. Hepatol. 2001)342348